A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2175692



Internal ID17819898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71008708..71056664hg38UCSC Ensembl
Innerchr2:71235838..71283794hg19UCSC Ensembl
Innerchr2:71089346..71137302hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3847957
hg1947957
hg1847957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961789
Supporting Variants
SamplesHGDP00927
Known GenesOR7E91P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2175692
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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